Nelly Pitteloud, M.D.

Genetics of Inherited Neuroendocrine Reproductive Disorders
This study aims to elucidate the genetic control of puberty and human reproduction. To learn more about this study or to refer a patient, please contact Nelly Pitteloud.

Characterizing the Reproductive and Metabolic Profiles of GnRH Deficient Patients
This project studies the phenotypic expression of GnRH disorders through detailed neuroendocrine profiling and metabolic assessments.

GnRH Deficeincy: Elucidation of the neuroendocrine control of human reproduction
This project creates a European consortium of clinicians, basic scientists, geneticists, and bioinformatics specialists interested in GnRH biology and reproduction. This network aims to create a patient registry, develop clinical best practices guidelines, provide patient support, facilitate collaboration, and train young investigators in the field. For more info see gnrhnetwork.eu.

FGF21 is a link between reproduction and energy balance
This interdisciplinary project involves leading investigators in the fields of human genetics, structural biology, chronobiology, and astrocytes metabolism to deepen our understanding of FGF21 biology and examine FGF21 as a link between energy metabolism, the neuroendocrine control of reproduction, and the circadian clock.

Role of FGF Signaling in the Neuroendocrine Control of Reproduction:
This study uses the complementary approaches of human genetics, murine studies, structural biology, and molecular biology to elucidate the biology of the FGF pathway including the FGF8 synexpression group.

Role of Rare Variants Underlying Common Reproductive Disorders:
This project examines the single gene disorders in ‘’maturity onset diabetes of the young’’ (MODY). Specifically it aims to discover new genes involved in the familial cases of MODY and better understand the variable expressivity of hyperglycemia within family members carrying the same gene defect.

European Cooperation in Science and Technology (COST): Building an international network of investigators studying the causes of GNRH deficiency
COST Action BM1105 is an international consortium of physicians and scientists studying hypogonadotropic hypogonadism, which is characterised by delayed or absent puberty, and infertility. This condition results from GnRH deficiency and is frequently associated with a lack of sense of smell (called Kallmann syndrome). This 4 year project aims to build a collaborative network that is actively seeking to involve patients, in order to translate scientific discoveries into improved patient care. www.gnrhnetwork.eu.